Article
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Human mutation - 1 Sept 2005
Miksch Sara, Lumsden Amanda, Guenther Ulf P, Foernzler Dorothee, Christen-Zäch Stéphanie, Daugherty Carol, Ramesar Raj Kumar S, Lebwohl Mark, Hohl Daniel, Neldner Kenneth H, Lindpaintner Klaus, Richards Robert I, Struk Berthold
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a mutation detection rate of 97%. This screen consisted of 170 PXE chromosomes in 81 families, and detected 59 distinct...
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